Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs370343781
rs370343781 		0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.800 1.000 8 2009 2016
dbSNP: rs201540674
rs201540674 		0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 6 2013 2015
dbSNP: rs201540674
rs201540674 		0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 6 2013 2015
dbSNP: rs398123018
rs398123018 		0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.800 1.000 6 2013 2017
dbSNP: rs1470145133
rs1470145133 		1.000 20 63693183 missense variant T/G snv 4.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs370343781
rs370343781 		0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 5 2009 2016
dbSNP: rs398123016
rs398123016 		1.000 20 63690161 missense variant G/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2017
dbSNP: rs398123019
rs398123019 		1.000 20 63672607 missense variant G/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 4 2013 2017
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs2297440
rs2297440 		0.763 0.080 20 63680946 intron variant T/C snv 0.81
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor 		0.010 1.000 1 2011 2011
dbSNP: rs2738783
rs2738783 		0.763 0.160 20 63677259 intron variant T/G snv 0.85
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs2738783
rs2738783 		0.763 0.160 20 63677259 intron variant T/G snv 0.85
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs2738783
rs2738783 		0.763 0.160 20 63677259 intron variant T/G snv 0.85
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs2738783
rs2738783 		0.763 0.160 20 63677259 intron variant T/G snv 0.85
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs35640778
rs35640778 		20 63689775 missense variant G/A snv 1.2E-02 1.2E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089 		0.790 0.080 20 63685277 intron variant C/T snv 0.70
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089 		0.790 0.080 20 63685277 intron variant C/T snv 0.70
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089 		0.790 0.080 20 63685277 intron variant C/T snv 0.70
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089 		0.790 0.080 20 63685277 intron variant C/T snv 0.70
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs6062302
rs6062302 		0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1161373315
rs1161373315 		1.000 20 63662876 stop gained C/A;T snv 7.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 0
dbSNP: rs1177091623
rs1177091623 		1.000 20 63689563 missense variant C/T snv 4.0E-06
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 0